Gene Summary

collagen and calcium binding EGF domains 1
4933426F18Rik,  9430093N24Rik

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal uterus morphology Ccbe1em1(IMPC)Mbp HET Early adult 0.00
abnormal retina blood vessel morphology Ccbe1em1(IMPC)Mbp HET Early adult 4.94×10-06
preweaning lethality, complete penetrance Ccbe1em1(IMPC)Mbp HOM   Early adult 0.00
persistence of hyaloid vascular system Ccbe1em1(IMPC)Mbp HET Early adult 4.60×10-06
abnormal liver morphology Ccbe1em1(IMPC)Mbp HET Early adult 0.00
abnormal eye morphology Ccbe1em1(IMPC)Mbp HET Early adult 0.00
small liver Ccbe1em1(IMPC)Mbp HET Early adult 0.00
abnormal retina vasculature morphology Ccbe1em1(IMPC)Mbp HET Early adult 2.23×10-07
abnormal placenta vasculature Ccbe1em1(IMPC)Mbp HOM E15.5 0.00
abnormal placenta morphology Ccbe1em1(IMPC)Mbp HOM E15.5 0.00
enlarged uterus Ccbe1em1(IMPC)Mbp HET Early adult 0.00

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.


XRay Images Whole Body Dorso Ventral

39 Images


XRay Images Whole Body Lateral Orientation

13 Images

MicroCT E14.5-E15.5

Embryo reconstruction

1 Images

Human diseases caused by Ccbe1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Ccbe1 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Ccbe1 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Lymphatic Malformation 9
Predominantly lower limb lymphedema, Tortuous lymphatic vessels OMIM:619319
Gjc2-Related Late-Onset Primary Lymphedema
Predominantly lower limb lymphedema, Facial edema, Genital edema, Abnormal lymphatic vessel morph... ORPHA:568051
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Pallor, Anemia ORPHA:46532
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Pulmonary lymphangiomyomatosis OMIM:606690
Yellow Nail Syndrome
Predominantly lower limb lymphedema, Lymphedema, Hypoplasia of lymphatic vessels OMIM:153300
Lymphatic Malformation 5
Predominantly lower limb lymphedema, Facial edema, Hypoplasia of lymphatic vessels OMIM:153200
Fetal Cytomegalovirus Syndrome
Anemia, Hepatomegaly, Splenomegaly ORPHA:294
Diamond-Blackfan Anemia 19
Steroid-responsive anemia, Anemia, Erythroid hypoplasia OMIM:618312
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Pallor, Poikilocytosi... OMIM:615234
Diamond-Blackfan Anemia-Like
Steroid-responsive anemia, Pure red cell aplasia OMIM:617911
Lymphatic Malformation 1
Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Prominent superficial veins, Hype... OMIM:153100
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Pallor, Poikil... OMIM:615631
Transient Erythroblastopenia Of Childhood
Anemia, Transient erythroblastopenia OMIM:227050
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Pallor, Hemolytic anemia, Splenomegaly ORPHA:228312
Corneal Dystrophy, Fuchs Endothelial, 3
Edema OMIM:613267
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG leve... ORPHA:90362
Acquired Idiopathic Sideroblastic Anemia
Anemia of inadequate production, Granulocytopenia, Hepatomegaly, Neutropenia, Leukocytosis, Splen... ORPHA:75564
Anemia, Hypochromic Microcytic, With Iron Overload 1
Hypochromia, Decreased mean corpuscular volume, Anemia, Abnormality of the liver OMIM:206100
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Pallor, Hydrops fetalis, Polyhydramnios, Anemia,... ORPHA:163596
Edema OMIM:614103
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Acute Myelomonocytic Leukemia
Leukocytosis, Pallor, Eosinophilia, Anemia, Thrombocytopenia ORPHA:517
Uterine Anomalies
Abnormality of the uterus, Bicornuate uterus OMIM:192000
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Pallor, Leukopenia, Abnormal ma... ORPHA:507
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Hepatomegaly, Splenomegaly, Pallor, Decreased hemoglobin concentration, Nonimmune... OMIM:266200
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, L... OMIM:615285
X-Linked Sideroblastic Anemia
Pallor, Elevated hepatic transaminase, Anemia, Splenomegaly ORPHA:75563
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly, Lymphadenopathy, Jaundice OMIM:312500
Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Pallor, Hepatitis, Microcytic an... ORPHA:848
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox... OMIM:206000
Hemophagocytic Lymphohistiocytosis, Familial, 3
Granulocytopenia, Hemophagocytosis, Hepatosplenomegaly, Reduced natural killer cell activity, Anemia OMIM:608898
Breath-Holding Spells
Pallor, Iron deficiency anemia OMIM:607578
Primary Myelofibrosis
Petechiae, Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Pallor, Hepato... ORPHA:824
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia
Anemia ORPHA:2802
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Abnormal platelet function, Anemia, Thrombocytopenia ORPHA:231393
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Megaloblastic anemia, Hepatomegaly, Pallor, Pancytopenia, Thrombocytopenia, Jaundice OMIM:613839
Lymphangiectasia, Intestinal
Pedal edema, Stillbirth, Edema, Intestinal lymphangiectasia OMIM:152800
Kaposiform Lymphangiomatosis
Lymphangioma, Splenomegaly, Abnormal spleen morphology, Hepatosplenomegaly, Epidural hemorrhage, ... ORPHA:464329
Adenomyosis OMIM:600458
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Leukocytosis, Splenomegaly, Pallor, Myeloproliferative disorder, Intracranial hemor... ORPHA:3226
Hyperlysinemia, Type I
Anemia OMIM:238700
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Hemophagocytosis, Splenomegaly, Edema, Neutropenia, Anemia, Thrombocytopenia, Jaund... OMIM:603552
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Leukemia, Acute myeloid leukemia, Erythroid... OMIM:133180
Hydatidiform Mole
Enlarged uterus ORPHA:99927
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Hepatomegaly, Splenomegaly, Pallor, Increased red cell hemolysis by shear stress,... OMIM:194380
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia OMIM:618310
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Pulmonary lymphangiectasia, Lymphedema, Pericardial lymphangiectasia, Intestinal lymphangiectasia OMIM:616006
Elliptocytosis 1
Splenomegaly, Pallor, Hemolytic anemia, Elliptocytosis, Jaundice OMIM:611804
Anemia, Sideroblastic, 1
Anemia of inadequate production, Anemic pallor, Hypochromic microcytic anemia, Macrocytic anemia,... OMIM:300751
Cold Agglutinin Disease
Hepatomegaly, Splenomegaly, Pallor, Hemolytic anemia, Lymphadenopathy ORPHA:56425
Hemoglobin H Disease
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Kasabach-Merritt Syndrome
Petechiae, Leukopenia, Reticulocytosis, Hepatic hemangioma, Abnormal lymphatic vessel morphology,... ORPHA:2330
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Decreased circulating IgA level, Hepatomegaly, Lymphopenia, Decreased circ... ORPHA:331206
Acute Peripheral Arterial Occlusion
Pallor, Stroke, Leukocytosis ORPHA:90064
Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hydrops fetalis, Hemolytic anemia, Microcytic ... ORPHA:846
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... OMIM:603902
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Splenomegaly, Heinz bodies, Anisocytosis, Pallor, Poikilocytosis, Fava bean-induced... OMIM:300908
Congenital Atransferrinemia
Anemia, Abnormality of the pancreas ORPHA:1195
Transaldolase Deficiency
Cirrhosis, Hepatosplenomegaly, Hydrops fetalis, Coarctation of aorta, Edema, Premature skin wrink... ORPHA:101028
Beta-Thalassemia Intermedia
Cholelithiasis, Decreased liver function, Anemia of inadequate production, Decreased mean corpusc... ORPHA:231222
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Splenomegaly, Anemia, Anisocytosis, Hydrops fetalis, Poikilocytosis, Congenital hemolytic anemia,... ORPHA:766
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Hypochromic anemia, Pallor, Pappenheimer bodies, Microcytic anemia, Sideroblastic anemia, Erythro... OMIM:600462
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Endometriosis, Susceptibility To, 1
Endometriosis OMIM:131200
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Anemia, Sideroblastic anemia OMIM:205950
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Hepatosplenomegaly, Neonatal death OMIM:273680
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Splenomegaly, Cirrhosis, Elevated circulating aspartate aminotransferase ... OMIM:269600
Hereditary Spherocytosis
Cholelithiasis, Hepatomegaly, Spherocytosis, Splenomegaly, Extramedullary hematopoiesis, Anemia, ... ORPHA:822
Hyperbilirubinemia, Shunt, Primary
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Reticulocytosis, Jaundice, Erythroid... OMIM:237800
Alpha-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Dysgammaglobulinemia, Anemia, Ascites, Lymphadenopathy ORPHA:100025
Cyanosis, Transient Neonatal
Methemoglobinemia, Hepatomegaly, Anemia, Reticulocytosis, Jaundice OMIM:613977
Evans Syndrome
Neutropenia in presence of anti-neutropil antibodies, Petechiae, Pallor, Autoimmune thrombocytope... ORPHA:1959
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphopenia, Stroke, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Auto... ORPHA:444463
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Hydrops fetalis, Thrombocytopenia, Polyhydramnios, Patent ductus arteriosus, Anemia... ORPHA:2123
Fetal Parvovirus Syndrome
Hydrops fetalis, Thrombocytopenia, Anemia, Ascites, Increased nuchal translucency ORPHA:295
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Cerebral hemorrhage, Increased red blood cell m... OMIM:263300
Chilblain Lupus 2
Vasculitis, Edema OMIM:614415
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Decreased mean corpuscular volume, Pallor, Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis OMIM:611590
Thiamine-Responsive Megaloblastic Anemia Syndrome
Pallor, Megaloblastic anemia, Thrombocytopenia, Stroke ORPHA:49827
Mu-Heavy Chain Disease
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Abnormal B cell count, Anemia, ... ORPHA:100024
Retinohepatoendocrinologic Syndrome
Pallor, Degenerative liver disease OMIM:268040
Anemia, Neutropenia, Splenomegaly OMIM:602079
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Decreased mean corpuscular volume, Pallor, Hepatosplenomegaly, Anisopoikilocytosis, Elevated hepa... ORPHA:300298
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Foam cells with lamellar inclusion bodies, Th... OMIM:607616
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Splenomegaly, Abnormal natural killer cell physiology, Hepatosplenomegaly, Decr... OMIM:613101
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Pallor, Anisocytosis, Elevated hepatic transaminase, Poikilocy... ORPHA:98870
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Hepatic failure, Cirrhosis, Hepatic fibrosis, Edema, Lymphangiectasis OMIM:602579
Letterer-Siwe Disease
Pallor, Hepatosplenomegaly, Neutropenia, Anemia, Thrombocytopenia, Jaundice OMIM:246400
Tempi Syndrome
Increased hematocrit, Polycythemia, Intracranial hemorrhage, Increased circulating IgG level, Fac... ORPHA:284227
Autoimmune Hemolytic Anemia
Abnormal leukocyte morphology, Pallor, Hemolytic anemia, Splenomegaly ORPHA:98375
Central Retinal Vein Occlusion
Cystoid macular edema, Macular degeneration, Papilledema, Macular edema, Retinal neovascularizati... ORPHA:411527
Reticular Dysgenesis
Dehydration, Leukopenia, Abnormality of neutrophils, Decreased circulating antibody level, Aplasi... ORPHA:33355
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis OMIM:619398
Hydrops Fetalis, Nonimmune
Anemia, Hydrops fetalis, Nonimmune hydrops fetalis OMIM:236750
Hemoglobin E Disease
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... ORPHA:2133
Ras-Associated Autoimmune Leukoproliferative Disorder
Increased circulating antibody level, Hepatomegaly, Lymphocytosis, Splenomegaly, Monocytosis, Aut... OMIM:614470
Aregenerative Anemia
Abnormal proportion of CD8-positive T cells, Neutropenia, Pallor, Erythroid hypoplasia, Decreased... ORPHA:101096
Rosaï-Dorfman Disease
Anemia, Lymphadenopathy, Erythema, Dysgammaglobulinemia ORPHA:158014
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology ORPHA:2690
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatosple... OMIM:616860
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Increased circulating antibody level, Acute monocytic leukemia, Eosinophilia, Monocytosis, Congen... OMIM:202700
Autosomal Erythropoietic Protoporphyria
Cholelithiasis, Decreased liver function, Cirrhosis, Erythema, Microcytic anemia, Edema ORPHA:79278
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Peripheral retinal avascularization, Falciform retinal fold, Retinal... OMIM:305390
Lymphoproliferative Syndrome 1
Hepatomegaly, Decreased circulating IgG level, Splenomegaly, Leukopenia, Autoimmune thrombocytope... OMIM:613011
Cernunnos-Xlf Deficiency
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased circulating antibody level, Anemia, ... ORPHA:169079
Acute Erythroid Leukemia
Leukopenia, Erythroid hypoplasia, Pancytopenia, Bone marrow hypocellularity, Anemia ORPHA:318
Erythrocytosis, Familial, 1
Cerebral hemorrhage, Increased hematocrit, Splenomegaly, Increased red blood cell mass, Increased... OMIM:133100
Lymphangiectasia, Pulmonary, Congenital
Facial edema, Chylothorax, Pulmonary lymphangiectasia, Chylous ascites, Palpebral edema, Nonimmun... OMIM:265300
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal platelet function, Abno... ORPHA:2585
Familial Exudative Vitreoretinopathy
Vitreous hemorrhage, Rhegmatogenous retinal detachment, Peripheral retinal avascularization, Chor... ORPHA:891
Chromosome 5Q Deletion Syndrome
Anemia of inadequate production, Refractory macrocytic anemia, Erythroid hypoplasia OMIM:153550
Waldenström Macroglobulinemia
Hepatomegaly, Stroke, Splenomegaly, Pallor, Normocytic anemia, Vasculitis, Abnormality of neutrop... ORPHA:33226
Immunodeficiency 102
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Hepatomega... OMIM:301082
Lymphangiectasis, Predominantly lower limb lymphedema, Lymphedema, Edema ORPHA:182
Lymphedema-Cerebral Arteriovenous Anomaly Syndrome
Lymphedema, Abnormal cerebral vascular morphology ORPHA:86914
Imerslund-Gräsbeck Syndrome
Megaloblastic anemia, Neutropenia, Pallor, Anisopoikilocytosis, Macrocytic anemia, Thrombocytopen... ORPHA:35858
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Immunodeficiency 69
Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Pancytopenia, Anemia OMIM:618963
Bleeding Disorder, Platelet-Type, 16
Petechiae, Impaired platelet aggregation, Macrothrombocytopenia, Giant platelets, Platelet anisoc... OMIM:187800
Eosinophilia, Familial
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis OMIM:131400
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detachment, Peripheral retin... OMIM:133780
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Hepatic fibrosis, Anemia OMIM:613313
Bone Marrow Failure Syndrome 2
Anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia OMIM:615715
Systemic Mastocytosis With Associated Hematologic Neoplasm
Abnormal mast cell morphology, Hepatomegaly, Neutrophilia, Splenomegaly, Leukocytosis, Myeloproli... ORPHA:98849
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Petechiae, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Edema... ORPHA:158029
Pearson Marrow-Pancreas Syndrome
Hypoplastic anemia, Exocrine pancreatic insufficiency, Neutropenia, Hepatomegaly, Sideroblastic a... OMIM:557000
Retinitis Pigmentosa 42
Pallor OMIM:612943
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Pallor, Splenomegaly ORPHA:90037
Anemia ORPHA:655
Refractory Anemia With Excess Blasts
Anemia of inadequate production, Leukocytosis, Anemic pallor, Abnormal mean corpuscular volume, P... ORPHA:86839
Refractory Anemia
Anemia of inadequate production, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Neut... ORPHA:98826
Yellow Nail Syndrome
Lymphedema, Hypoplasia of lymphatic vessels ORPHA:662
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD8-pos... OMIM:619824
Schnitzler Syndrome
Hepatomegaly, Leukocytosis, Splenomegaly, Vasculitis, Increased circulating IgM level, Anemia, Ly... ORPHA:37748
Beta-Thalassemia Major
Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, E... ORPHA:231214
Vitreoretinopathy, Neovascular Inflammatory
Vitreous hemorrhage, Peripheral retinal neovascularization, Retinal detachment, Vitreoretinopathy... OMIM:193235
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hepatic failure, Erythema, Hemolytic anemia, Edema OMIM:177000
Dominant Beta-Thalassemia
Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis, Cirrhosis, Chronic... ORPHA:231226
Isobutyryl-Coa Dehydrogenase Deficiency
Anemia OMIM:611283
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Generalized edema, Intestinal lymphangiectasia OMIM:207731
Classic Mycosis Fungoides
Hepatomegaly, Splenomegaly, Erythema, Dry skin, Edema, Skin ulcer, Abnormal lymphocyte morphology... ORPHA:2584
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Splenomegaly, Anemia, Thrombocytopenia, Hypersplenism OMIM:610539
Immunodeficiency 27A
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, In... OMIM:209950
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Bone marrow hypocellularity, Anemia... OMIM:619041
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Hepatomegaly, Lymphocytosis, Hemophagocytosis, Splenomegaly, Hepatic failure, Decrea... OMIM:308240
Retinitis Pigmentosa 60
Pallor OMIM:613983
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Anemia of inadequate production, Splenomegaly, Reticulocytosis, Jaundice OMIM:224100
Autoimmune Hemolytic Anemia, Warm Type
Splenomegaly, Pallor, Chronic lymphatic leukemia, Autoimmune hemolytic anemia, Jaundice ORPHA:90033
Bone Marrow Failure Syndrome 4
Leukopenia, Dry skin, Decreased circulating antibody level, Bone marrow hypocellularity, Anemia, ... OMIM:618116
Osteopetrosis, Autosomal Recessive 8
Anemia, Thrombocytopenia, Hepatomegaly, Splenomegaly OMIM:615085
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Anemia of inadequate production, Increased mean corpuscular volume, Nonspherocyti... ORPHA:3202
Retinitis Pigmentosa 81
Pallor OMIM:617871
Congenital Toxoplasmosis
Hepatomegaly, Thrombocytopenia, Elevated hepatic transaminase, Anemia, Ascites, Jaundice, Lymphad... ORPHA:858
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
American Trypanosomiasis
Hepatomegaly, Splenomegaly, Pallor, Edema, Periorbital edema, Lymphadenopathy ORPHA:3386
Leukocyte Adhesion Deficiency, Type Iii
Petechiae, Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Abnormality of... OMIM:612840
Uterus Bicornis Bicollis With Partial Vaginal Septum And Unilateral Hematocolpos With Ipsilateral Renal Agenesis
Hematocolpos, Uterus didelphys, Partial vaginal septum OMIM:192050
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Hereditary Folate Malabsorption
Megaloblastic anemia, Pallor, Eosinophilia, Decreased circulating antibody level, Pancytopenia, T... ORPHA:90045
Anemia, Sideroblastic, 5
Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia OMIM:619523
Osteopetrosis, Autosomal Recessive 4
Petechiae, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Anemia, Thrombocytopenia OMIM:611490
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pleural effusion, Generalized edema, Stillbirth, Peric... OMIM:618773
Vitamin B12-Responsive Methylmalonic Acidemia
Anemia, Dehydration, Hepatomegaly ORPHA:28
Lymphatic Malformation 11
Lymphedema, Pedal edema OMIM:619401
Hemochromatosis, Type 3
Lymphopenia, Cirrhosis, Elevated hepatic transaminase, Purpura, Neutropenia, Anemia OMIM:604250
Erythrocytosis, Familial, 4
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:611783
Anemia, Congenital Dyserythropoietic, Type Ia
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anisocytosis, Hydrops fetalis, Schis... OMIM:224120
Lymphatic Malformation 7
Pulmonary edema, Facial edema, Nonimmune hydrops fetalis, Lymphedema, Edema, Anemia, Varicose vei... OMIM:617300
Stormorken-Sjaastad-Langslet Syndrome
Anemia, Purpura, Asplenia ORPHA:3204
Erythrocytosis, Familial, 5
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:617907
Anemia, Congenital Dyserythropoietic, Type Iv
Circulating nucleated red blood cells, Anemia of inadequate production, Hepatomegaly, Splenomegal... OMIM:613673
Parkes Weber Syndrome
Arteriovenous malformation, Peripheral arteriovenous fistula, Spinal arteriovenous malformation, ... ORPHA:90307
Mastocytosis, Cutaneous
Cutaneous mastocytosis, Erythema, Edema OMIM:154800
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased mean corpuscular volume, Pallor, Anisocytosis, Poikilocytosis, Elliptocytosis, Anemia OMIM:616959
46,Xy Sex Reversal 3
Sex reversal, Hypoplasia of the uterus, Gonadal dysgenesis, Ambiguous genitalia, Penoscrotal hypo... OMIM:612965
Optic Atrophy 9
Pallor OMIM:616289
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:609820
Sepsis In Premature Infants
Decreased liver function, Petechiae, Hepatomegaly, Leukocytosis, Splenomegaly, Pallor, Purpura, E... ORPHA:90051
Fanconi Anemia, Complementation Group G
Anemia, Thrombocytopenia, Leukemia, Neutropenia OMIM:614082
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Posterior lenticonus, Retinal dystrophy, Iris coloboma, ... ORPHA:231736
Donnai-Barrow Syndrome
Bicornuate uterus, Retinal detachment, Retinal dystrophy, Iris coloboma, Abnormality of the uterus ORPHA:2143
Omphalocele-Cleft Palate Syndrome, Lethal
Bicornuate uterus OMIM:258320
Retinitis Pigmentosa 27
Pallor, Macular edema OMIM:613750
Pallor, Myeloproliferative disorder, Purpura, Splenomegaly OMIM:254450
Ovarian Dysgenesis 7
Hypoplasia of the uterus OMIM:618117
Fanconi Anemia, Complementation Group T
Bone marrow hypocellularity, Anemia, Thrombocytopenia, Pancytopenia OMIM:616435
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Pancreatitis, Hepatomegaly, Stroke, Splenomegaly, Dehydration, Neutropenia, Anemia, Thrombocytopenia ORPHA:79312
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Pallor, Anemia, Hepatomegaly OMIM:246450
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Splenomegaly, Polyhydramnios, Anemia, Oligohydramnios, Ascites ORPHA:1046
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Hepatomegaly, Splenomegaly, Anisopoikilocytosis, Acanthocytosi... OMIM:616689
Peripheral Cone Dystrophy
Pallor OMIM:609021
Hepatoportal Sclerosis
Intrahepatic portal vein sclerosis, Abnormality of the hepatic vasculature, Periportal fibrosis, ... ORPHA:64743
Erythrocytosis, Familial, 6
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:617980
Idiopathic Pulmonary Hemosiderosis
Pallor, Hepatosplenomegaly, Hepatomegaly, Iron deficiency anemia ORPHA:99931
Erythrocytosis, Familial, 2
Stroke, Increased hematocrit, Cerebral hemorrhage, Increased red blood cell mass, Increased hemog... OMIM:263400
Majeed Syndrome
Joint swelling, Decreased mean corpuscular volume, Anemia of inadequate production, Hepatosplenom... OMIM:609628
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Immunodeficiency 46
Anemia, Decreased circulating antibody level, Intermittent thrombocytopenia, Neutropenia OMIM:616740
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Hepatic failure, Splenomegaly, Pulmonary lymphangiectasia, Polyhydramnios, Lymphede... OMIM:235255
Wolman Disease
Hepatomegaly, Splenomegaly, Hepatic failure, Bone-marrow foam cells, Anemia, Ascites ORPHA:75233
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Neutrophilia, Abnormality of the lymph nodes, Brain abscess, Abnormality of the lymphatic system,... ORPHA:54251
Bone Marrow Failure Syndrome 5
Anemia, Decreased circulating antibody level, Pure red cell aplasia OMIM:618165
Lysosomal Acid Lipase Deficiency
Hepatomegaly, Periportal fibrosis, Hepatic foam cells, Splenomegaly, Hepatic failure, Cirrhosis, ... OMIM:278000
Eales Disease
Vitreous hemorrhage, Cystoid macular edema, Rhegmatogenous retinal detachment, Subhyaloid hemorrh... ORPHA:40923
Diamond-Blackfan Anemia 16
Anemia OMIM:617408
Spherocytosis, Type 5
Spherocytosis, Abnormal leukocyte count, Splenomegaly, Hemolytic anemia, Abnormal platelet count,... OMIM:612690
Dohle Bodies And Leukemia
Leukocyte inclusion bodies, Anemia, Lymphedema, Acute myeloid leukemia OMIM:223350
Rudiger Syndrome
Ovarian cyst, Bicornuate uterus, Micropenis OMIM:268650
Thrombocytopenia 5
Anemia, Thrombocytopenia, Petechiae, Neutropenia OMIM:616216
Erythrocytosis, Familial, 8
Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Polycythemia, Normocytic anemia, C... OMIM:222800
Diamond-Blackfan Anemia 9
Anemia OMIM:613308
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Focal Segmental Glomerulosclerosis 1
Anemia, Edema OMIM:603278
Vitamin B12-Unresponsive Methylmalonic Acidemia
Pancreatitis, Hepatomegaly, Dehydration, Leukopenia, Macrocytic anemia, Anemia, Thrombocytopenia ORPHA:27
Infantile Liver Failure Syndrome 1
Hepatomegaly, Acute hepatic failure, Macrocytic anemia, Elevated hepatic transaminase, Anemia, He... OMIM:615438
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Decreased testicular size, A... OMIM:614837
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Acute myelomonocytic leukemia, Pancytopenia, Neutropenia, Anemia, Thrombocyto... OMIM:159550
Ovarian Dysgenesis 5
Hypoplasia of the uterus OMIM:617690
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Facial edema, Hemophagocytosis, Splenomegaly, Pancytopenia, Anemia OMIM:618398
Omenn Syndrome
Hepatomegaly, Leukocytosis, Splenomegaly, Eosinophilia, Dry skin, Abnormal lymphocyte morphology,... ORPHA:39041
Cinca Syndrome
Leukocytosis, Eosinophilia, Hepatosplenomegaly, Lymphedema, Anemia, Lymphadenopathy OMIM:607115
Lymphatic Malformation 6
Facial edema, Chylothorax, Genital edema, Splenomegaly, Nonimmune hydrops fetalis, Polyhydramnios... OMIM:616843
Immunodeficiency 97 With Autoinflammation
Hemophagocytosis, Foam cells, Decreased proportion of CD4+CD25+ regulatory T cells, Monocytopenia... OMIM:619802
Retinal Venous Beading
Abnormal distribution of retinal arterioles and venules, Retinal infarction, Vitreous hemorrhage,... OMIM:180080
46,Xx Ovotesticular Disorder Of Sex Development
Urogenital sinus anomaly, Abnormal male internal genitalia morphology, Hypoplasia of penis, Bifid... ORPHA:2138
Erythrocytosis, Familial, 7
Polycythemia, Increased hematocrit OMIM:617981
Isolated Agammaglobulinemia
Abnormality of the lymphatic system, Abnormal lymphocyte morphology, Abnormality of the tonsils, ... ORPHA:229717
Sickle Cell Anemia
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... ORPHA:232
Bleeding Disorder, Platelet-Type, 19
Anemia, Macrothrombocytopenia OMIM:616176
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Abnormal uterine cervix morphology, Uterus didelphys, Partial vaginal septum, Hydrocolpos ORPHA:3411
Lymphatic Filariasis
Predominantly lower limb lymphedema, Lymphadenitis, Abnormality of the lymphatic system, Lymphede... ORPHA:2035
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Abnormal vagina morphology, Hypoplasia of the uterus, Gonadal dysgenesis with female appearance, ... ORPHA:168563
Congenital Disorder Of Glycosylation, Type Ih
Decreased liver function, Hepatomegaly, Neonatal death, Cholestasis, Thrombocytopenia, Patent duc... OMIM:608104
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Abnormal vagina morphology, Streak ovary, Hypospadias, Abnormality of the uterus, Gonadoblastoma,... OMIM:194072
3-Hydroxy-3-Methylglutaric Aciduria
Lipid accumulation in hepatocytes, Hepatomegaly, Leukocytosis, Pallor, Dehydration, Leukopenia, A... ORPHA:20
Ovarian Dysgenesis 6
Hypoplasia of the uterus OMIM:618078
Caudal Duplication Anomaly
Uterus didelphys OMIM:607864
Familial Hemophagocytic Lymphohistiocytosis
Decreased liver function, Cholestatic liver disease, Hepatomegaly, Petechiae, Hemophagocytosis, S... ORPHA:540
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anemia of inadequate production, Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocy... ORPHA:67044
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hydrops fetalis, Congenital thrombocytopenia, Neutropenia, Anemia, Thrombocytopenia OMIM:616738
Omenn Syndrome
Hepatomegaly, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, B l... OMIM:603554
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma... ORPHA:983
Optic Atrophy 1
Pallor OMIM:165500
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anemia of inadequate production, Anisocytosis, Oval macrocytosis, Poikilocytosis OMIM:603529
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... OMIM:300835
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Aplasia/hypoplasia of the uterus, Azoospermia, Bicornuate uterus ORPHA:2578
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Leukopenia, Monocytosis, Bone marrow hypocellularity, Refractory anemia, Acute myeloid leukemia OMIM:616871
Wilson Disease
Joint swelling, Hepatomegaly, Splenomegaly, Acute hepatic failure, Cirrhosis, Anemia, Thrombocyto... ORPHA:905
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1
Cirrhosis, Aplastic anemia, Myeloid leukemia, Mediastinal lymphadenopathy, Pancytopenia, Bone mar... OMIM:614742
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly OMIM:617441
Diamond-Blackfan Anemia 20
Anemia, Total anomalous pulmonary venous return, Erythroid hypoplasia OMIM:618313
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Anemia, Anemic pallor, Edema ORPHA:329971
Transaldolase Deficiency
Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Splenomegaly, Cirrhosis, Hepatosp... OMIM:606003
Premature Ovarian Failure 3
Hypoplasia of the uterus OMIM:608996
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Splenomegaly, Erythema, Edema, Autoimmune hemolytic anemia, Lymphadenopathy OMIM:619183
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Decreased circulating IgG level, Hemophagocytosis, Splenomegaly, B lymphocytopenia,... OMIM:301078
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... ORPHA:3203
Meige Disease
Predominantly lower limb lymphedema, Facial edema, Absence of lymph node germinal center, Edema o... ORPHA:90186
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Neutropenia, Hemophagocytosis, Splenomegaly, Hepatic failure, Hepatosplenomegaly, Hepatocellular ... ORPHA:158057
Sézary Syndrome
Hepatomegaly, Splenomegaly, Dry skin, Abnormal immunoglobulin level, Edema, Abnormal lymphocyte m... ORPHA:3162
Hemochromatosis, Type 4
Cirrhosis, Anemia, Hepatic steatosis, Hepatomegaly OMIM:606069
Plummer-Vinson Syndrome
Pallor, Hypochromic microcytic anemia, Iron deficiency anemia ORPHA:54028
Microphthalmia, Syndromic 12
Cryptorchidism, Bicornuate uterus OMIM:615524
Mixed-Type Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Pallor ORPHA:90036
Androgen Insensitivity Syndrome
Ambiguous genitalia, male, Male pseudohermaphroditism, Aplasia/hypoplasia of the uterus, Testicul... ORPHA:754
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Normocytic anemia, Cholecystitis, ... OMIM:235700
Fumarase Deficiency
Polycythemia, Pallor, Cholestasis, Hepatic failure OMIM:606812
Aggressive Systemic Mastocytosis
Decreased liver function, Neutropenia, Abnormal mast cell morphology, Leukocytosis, Hepatosplenom... ORPHA:98850
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Impaired memory B cell generation, Absence of lymph node germinal center, Decreased... OMIM:308230
Cutaneous abscess, Increased circulating antibody level, Leukocytosis, Abnormal nasopharyngeal ad... ORPHA:3392
Auditory Neuropathy And Optic Atrophy
Pallor OMIM:617717
Idiopathic Hypereosinophilic Syndrome
Pancreatitis, Neutrophilia, Vasculitis in the skin, Cervical lymphadenopathy, Portal fibrosis, Tr... ORPHA:3260
Osteopetrosis, Autosomal Dominant 3
Anemia, Hepatomegaly, Splenomegaly OMIM:618107
Amed Syndrome, Digenic
Leukopenia, Persistent left superior vena cava, Bone marrow hypocellularity, Anemia, Thrombocytop... OMIM:619151
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Anemia of inadequate production, Exocrine pancreatic insufficiency, Hepatomegaly, Splenomegaly, A... OMIM:612714
Dermatitis, Atopic
Pallor, Dry skin, Facial erythema OMIM:603165
Retinitis Pigmentosa 70
Pallor OMIM:615922
Vaginal Atresia
Bicornuate uterus, Imperforate hymen, Uterus didelphys, Cervicitis, Transverse vaginal septum, Ab... ORPHA:65681
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Congenital Enterovirus Infection
Leukocytosis, Hepatic failure, Leukopenia, Hydrops fetalis, Cholestasis, Abnormal macrophage morp... ORPHA:292
Vitreous hemorrhage, Retinal arteriolar constriction, Retinal detachment, Retinal neovascularizat... OMIM:193220
Macrophage Activation Syndrome
Decreased liver function, Neutropenia, Hepatomegaly, Hemophagocytosis, Splenomegaly, Elevated cir... ORPHA:158061
Hereditary Elliptocytosis
Cholelithiasis, Stomatocytosis, Splenomegaly, Hydrops fetalis, Hemolytic anemia, Poikilocytosis, ... ORPHA:288
Ovarian Dysgenesis 2
Hypergonadotropic hypogonadism, Hypoplasia of the uterus, Streak ovary OMIM:300510
Gaucher Disease Type 1
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Cirrhosis, Leukopenia, Thromboc... ORPHA:77259
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor ORPHA:2786
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Polyhydramnios, Anemia, Hydrops fetalis, Abnormal aortic morphology ORPHA:3405
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Hepatomegaly, Mediastinal lymphadenopathy, Abnormality of the peritoneu... ORPHA:83469
Premature Ovarian Failure 7
Hypoplasia of the uterus, Clitoral hypertrophy, Gonadal dysgenesis OMIM:612964
Gaucher Disease, Type Ii
Anemia, Thrombocytopenia, Hepatomegaly, Splenomegaly OMIM:230900
Klippel-Trénaunay Syndrome
Hepatomegaly, Peripheral arteriovenous fistula, Hydrops fetalis, Microcytic anemia, Patent ductus... ORPHA:90308
Ovarian Fibrothecoma
Abnormal endometrium morphology, Peritonitis, Gonadal calcification, Ovarian fibroma, Abnormality... ORPHA:314478
Beta-Ketothiolase Deficiency
Hepatomegaly, Leukocytosis, Pallor, Dehydration, Thrombocytosis, Edema ORPHA:134
Hypomelia With Mullerian Duct Anomalies
Uterus didelphys, Longitudinal vaginal septum OMIM:146160
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Cryptorchidism, Micropenis, Hypospadias, Abnormality of the uterus, Abn... ORPHA:1916
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Pallor, Hepatomegaly, Focal pancreatic islet hyperplasia ORPHA:276575
Idiopathic Aplastic Anemia
Pancytopenia, Ecchymosis, Neutropenia, Bone marrow hypocellularity, Anemia, Thrombocytopenia, Ret... ORPHA:88
Cinca Syndrome
Hepatomegaly, Leukocytosis, Splenomegaly, Abnormal granulocyte morphology, Abnormality of neutrop... ORPHA:1451
Prolidase Deficiency
Increased circulating antibody level, Petechiae, Hepatomegaly, Splenomegaly, Elevated circulating... OMIM:170100
Gamma-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Autoimmune thrombocytopenia, Abnormal lymphocyte morphology, Autoimmu... ORPHA:100026
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Pallor, Hepatomegaly ORPHA:276556
Blackfan-Diamond Anemia
Increased mean corpuscular volume, Neutropenia, Persistence of hemoglobin F, Pallor, Leukopenia, ... ORPHA:124
Thymic Carcinoma
Palpebral edema, Mediastinal lymphadenopathy, Neoplasm of the thymus, Abnormal vena cava morpholo... ORPHA:99868
Rhabdoid Tumor
Anemia, Neoplasm of the liver, Thrombocytopenia, Lymphadenopathy ORPHA:69077
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pallor, Pancreatic islet-cell hyperplasia ORPHA:276608
Perrault Syndrome 3
Hypergonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614129
Neonatal Lupus Erythematosus
Neutropenia, Hepatomegaly, Splenomegaly, Hepatic failure, Aplastic anemia, Hemolytic anemia, Elev... ORPHA:398124
Autoinflammation With Infantile Enterocolitis
Splenomegaly, Reduced natural killer cell activity, Pancytopenia, Anemia, Thrombocytopenia, Reduc... OMIM:616050
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hepatomegaly, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Leukopenia, Reduced natural kil... OMIM:603553
46,Xy Sex Reversal 11
Urogenital sinus anomaly, Gonadal dysgenesis with female appearance, male, Vanishing testis, Abno... OMIM:273250
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Pancreatitis, Hepatomegaly, Neutropenia, Anemia, Thrombocytopenia ORPHA:289916
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis, Jaundice OMIM:185000
Congenital Rubella Syndrome
Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Anemia, Thrombocytopenia, Jaundice ORPHA:290
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatomegaly, Hepatosplenomegaly, Absence of lymph node germinal center, Thrombocytopenia, T lymp... ORPHA:79124
Griscelli Syndrome Type 2
Petechiae, Hepatomegaly, Hemophagocytosis, Splenomegaly, Pancytopenia, Neutropenia, Lymphadenopat... ORPHA:79477
X-Linked Agammaglobulinemia
Abnormality of the lymphatic system, Abnormality of the tonsils, Hepatitis, Neutropenia, Skin ulc... ORPHA:47
Formiminoglutamic Aciduria
Megaloblastic anemia, Anemia ORPHA:51208
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Pallor, Hepatomegaly ORPHA:276580
Proteasome-Associated Autoinflammatory Syndrome 3
Increased circulating antibody level, Hepatomegaly, Lymphopenia, Splenomegaly, Elevated hepatic t... OMIM:617591
Pulmonary Edema Of Mountaineers, Susceptibility To
Pulmonary edema, Edema OMIM:178400
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypoplasia of the uterus, Hypoplasia of the ovary, Micropenis, Hypogonadotropic hypogonadism, Dec... OMIM:614841
46,Xy Sex Reversal 7
Sex reversal, Gonadal dysgenesis, male, Hypoplasia of the uterus, Streak ovary, Hypoplasia of the... OMIM:233420
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Hepatitis, Neutropen... OMIM:304790
Dermatitis Herpetiformis
Skin vesicle, Microcytic anemia, Erythema, Edema ORPHA:1656
Ollier Disease
Skin ulcer, Anemia, Lymphangioma ORPHA:296
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Pleural lymphangiectasia, Pericardial effusion, Lymphedema, Pericardial lymphangiectasia, Periorb... OMIM:235510
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Bone ma... OMIM:618849
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Lymphedema-Hypoparathyroidism Syndrome
Pulmonary lymphangiectasia, Lymphedema OMIM:247410
Coach Syndrome 3
Portal fibrosis, Anemia OMIM:619113
Leydig Cell Hypoplasia
Cryptorchidism, Abnormal external genitalia, Abnormal vas deferens morphology, Hypergonadotropic ... ORPHA:755
Retinitis Pigmentosa 73
Pallor OMIM:616544
Spherocytosis, Type 1
Cholelithiasis, Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis, Jaundice OMIM:182900
Wells Syndrome
Skin vesicle, Eosinophilia, Edema ORPHA:901
Spherocytosis, Type 2
Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Reticulocytosis, Jaundice OMIM:616649
Myoclonus, Intractable, Neonatal
Pallor OMIM:617235
Hyperinsulinism Due To Hnf1A Deficiency
Pallor, Hepatomegaly ORPHA:324575
Perrault Syndrome 6
Hypoplasia of the uterus, Streak ovary OMIM:617565
Tufted Angioma
Purpura, Anemia, Thrombocytopenia, Petechiae ORPHA:1063
Spherocytosis, Type 4
Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis, Jaundice OMIM:612653
Fanconi Anemia, Complementation Group V
Bone marrow hypocellularity, Anemia, Thrombocytopenia, Neutropenia OMIM:617243
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Anemia of inadequate production, Petechiae, Congenital thrombocytopenia, Acanthocytosis, Poikiloc... OMIM:300367
Sitosterolemia 1
Episodic hemolytic anemia, Splenomegaly, Coronary artery atherosclerosis, Reticulocytosis, Impair... OMIM:210250
Acute Monoblastic/Monocytic Leukemia
Lymphocytosis, Leukocytosis, Hypochromic anemia, Acute monocytic leukemia, Cervical lymphadenopat... ORPHA:514
Senior-Loken Syndrome 8
Intrahepatic bile duct dilatation, Pallor, Hepatic cysts, Vascular dilatation, Pancreatic cysts OMIM:616307
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Iron deficiency anemia, Thrombocytosis, Decreased circulating antibody level, Edema... OMIM:226300
Bazex Syndrome
Anemia, Scaling skin, Edema ORPHA:166113
Rh Deficiency Syndrome
Hypochromia, Spherocytosis, Anisocytosis, Hepatosplenomegaly, Macrocytic anemia, Hemolytic anemia... ORPHA:71275
Testicular Agenesis
Urogenital sinus anomaly, Hypoplasia of the uterus, Absent testis, Absent external genitalia, Abn... ORPHA:325124
X-Linked Lymphoproliferative Disease
Hemophagocytosis, Hepatic failure, Cervical lymphadenopathy, Aplastic anemia, B lymphocytopenia, ... ORPHA:2442
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Solute carrier family 4 (anion exchanger), member 1
Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Elliptocytosis, Stomatocytosis, Re... OMIM:109270
Premature Ovarian Failure 13
Hypoplasia of the uterus OMIM:617442
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Azoospermia, Hypoplasia of the uterus, Bicornuate uterus OMIM:601076
Optic Nerve Hypoplasia, Bilateral
Remnants of the hyaloid vascular system, Optic nerve aplasia, Morning glory anomaly, Optic nerve ... OMIM:165550
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor OMIM:612989
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Anemia, Vascular dilatation, Neutropenia OMIM:617056
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Uterus didelphys, Hypoplasia of penis ORPHA:2491
46,Xx Sex Reversal 2
Sex reversal, Hypoplasia of the uterus, Micropenis, Bifid scrotum, Hypoplasia of the vagina, Ovot... OMIM:278850
Fanconi Anemia, Complementation Group E
Anemic pallor, Thrombocytopenia, Pancytopenia, Neutropenia, Anemia, Leukemia, Reticulocytopenia OMIM:600901
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Splenomegaly OMIM:185020
Complete Androgen Insensitivity Syndrome
Blind vagina, Female external genitalia in individual with 46,XY karyotype, Testicular neoplasm, ... ORPHA:99429
Q Fever
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Granuloma, Hepatosplenomegaly, ... ORPHA:781
Fanconi Anemia, Complementation Group I
Bone marrow hypocellularity, Pallor, Neutropenia OMIM:609053
Combined Oxidative Phosphorylation Deficiency 40
Decreased liver function, Anemia, Nonimmune hydrops fetalis, Neonatal death OMIM:618835
Propionic Acidemia
Neutropenia, Pancreatitis, Hepatomegaly, Cerebellar hemorrhage, Dehydration, Pancytopenia, Anemia... OMIM:606054
Caudal Duplication
Abnormal penis morphology, Uterus didelphys, Cryptorchidism ORPHA:1756
Combined Oxidative Phosphorylation Deficiency 42
Decreased liver function, Anemia, Nonimmune hydrops fetalis, Neonatal death OMIM:618839
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Splenomegaly, Hepatic failure, Pulmonary lymphangiectasia, Hepatosplenomegaly, Poly... ORPHA:1655
Chediak-Higashi Syndrome
Hepatomegaly, Hemophagocytosis, Splenomegaly, Abnormal dense granules, Leukopenia, Impaired neutr... OMIM:214500
Estrogen Resistance
Hypoplasia of the uterus OMIM:615363
Stormorken Syndrome
Anemia, Thrombocytopenia, Stroke-like episode, Asplenia, Howell-Jolly bodies OMIM:185070
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hepatomegaly, Hemophagocytosis, Splenomegaly, Leukopenia, Generalized edema, Anemia, Thrombocytop... OMIM:267700
Renal Hypodysplasia/Aplasia 3
Abnormality of the uterus OMIM:617805
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Anemia ORPHA:371
Fanconi Anemia, Complementation Group A
Anemic pallor, Thrombocytopenia, Pancytopenia, Neutropenia, Anemia, Leukemia, Reticulocytopenia OMIM:227650
Neutrophilic Dermatosis, Acute Febrile
Anemia, Erythema, Pyoderma gangrenosum, Small vessel vasculitis OMIM:608068
Premature Ovarian Failure 6
Hypoplasia of the uterus, Streak ovary OMIM:612310
Felty Syndrome
Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Neutropenia, Bone marrow hypocellular... ORPHA:47612
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Pallor OMIM:608423
Methylmalonic Aciduria, Cblb Type
Hepatomegaly, Dehydration, Pancytopenia, Neutropenia, Anemia, Thrombocytopenia OMIM:251110
Mayer-Rokitansky-Kuster-Hauser Syndrome
Aplasia of the vagina, Hypoplasia of the uterus OMIM:277000
Diamond-Blackfan Anemia 11
Bone marrow hypocellularity, Anemia of inadequate production, Anemia, Neutropenia OMIM:614900
Fanconi Anemia, Complementation Group C
Anemic pallor, Thrombocytopenia, Pancytopenia, Neutropenia, Bone marrow hypocellularity, Anemia, ... OMIM:227645
Premature Ovarian Failure 18
Hypoplasia of the uterus, Hypoplasia of the ovary OMIM:619203
Hyperinsulinism Due To Hnf4A Deficiency
Hepatomegaly, Increased hepatic glycogen content, Pallor, Elevated hepatic transaminase, Pancreat... ORPHA:263455
Ovarian Dysgenesis 9
Hypoplasia of the uterus, Hypoplasia of the ovary OMIM:619665
Mevalonic Aciduria
Fluctuating hepatomegaly, Fluctuating splenomegaly, Leukocytosis, Hepatosplenomegaly, Normocytic ... OMIM:610377
Partial Androgen Insensitivity Syndrome
Urogenital sinus anomaly, Blind vagina, Micropenis, Bifid scrotum, Hypospadias, Perineal hypospad... ORPHA:90797
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... OMIM:610629
Irida Syndrome
Pallor, Intrahepatic cholestasis ORPHA:209981
Livedoid Vasculopathy
Abnormal capillary morphology, Leukocytosis, Polycythemia, Macular purpura, Pedal edema, Ecchymos... ORPHA:542643
Fanconi Anemia, Complementation Group D2
Annular pancreas, Neutropenia, Anemic pallor, Thrombocytopenia, Patent ductus arteriosus, Pancyto... OMIM:227646
Glycogen Storage Disease Xii
Cholelithiasis, Nonspherocytic hemolytic anemia, Hepatomegaly, Splenomegaly, Normocytic anemia, C... OMIM:611881
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Uterus didelphys, Septate vagina, Pseudopapilledema, Aplasia of the uterus, Aplasia of the vagina OMIM:146255
Spontaneous Periodic Hypothermia
Pallor ORPHA:29822
46,Xx Sex Reversal 1
Sex reversal, Bicornuate uterus, Hypospadias, Ovotestis, Clitoral hypertrophy, True hermaphroditi... OMIM:400045
Ghosal Hematodiaphyseal Dysplasia
Refractory anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia OMIM:231095
Acute Promyelocytic Leukemia
Petechiae, Leukocytosis, Leukopenia, Pancytopenia, Purpura, Ecchymosis, Neutropenia, Anemia, Thro... ORPHA:520
Gillessen-Kaesbach-Nishimura Syndrome
Periportal fibrosis, Bicornuate uterus OMIM:263210
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614842
Coloboma, Ocular, Autosomal Dominant
Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc coloboma, Optic nerve ... OMIM:120200
Methylmalonic Aciduria, Cbla Type
Hepatomegaly, Dehydration, Pancytopenia, Neutropenia, Anemia, Thrombocytopenia OMIM:251100
Satoyoshi Syndrome
Hypoplasia of the uterus, Abnormality of the ovary, Abnormality of the uterus, Hypoplasia of the ... ORPHA:3130
Cyclic Vomiting Syndrome
Pallor OMIM:500007
Duodenal Neuroendocrine Tumor
Extrahepatic cholestasis, Increased hematocrit, Hepatic failure, Iron deficiency anemia, Elevated... ORPHA:100076
Alveolar Echinococcosis
Cutaneous abscess, Decreased liver function, Increased circulating antibody level, Abnormal splee... ORPHA:284
Lesch-Nyhan Syndrome
Anemia ORPHA:510
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatomegaly, Lymphopenia, Leukocytosis, Splenomegaly, Stroke, Renal artery aneurysm, Hepatosplen... OMIM:615688
Tangier Disease
Chronic noninfectious lymphadenopathy, Hepatosplenomegaly, Dry skin, Accelerated atherosclerosis,... ORPHA:31150
Osteopetrosis, Autosomal Recessive 2
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Anemia, Thrombocytopenia OMIM:259710
Gaucher Disease, Type I
Hepatomegaly, Splenomegaly, Pancytopenia, Anemia, Thrombocytopenia, Hypersplenism OMIM:230800
Good Syndrome
Abnormal leukocyte morphology, Thymoma, Mediastinal lymphadenopathy, Decreased circulating antibo... ORPHA:169105
Eosinophilic Gastroenteritis
Leukocytosis, Eosinophilia, Edema, Anemia, Ascites ORPHA:2070
Hereditary Orotic Aciduria
Anemia, Impaired T cell function, Patent ductus arteriosus, Splenomegaly ORPHA:30
Infection-Related Hemolytic Uremic Syndrome
Pancreatitis, Leukocytosis, Pallor, Pleural empyema, Brain abscess, Hemolytic anemia, Edema, Gene... ORPHA:544482
Sting-Associated Vasculopathy, Infantile-Onset
Lymphopenia, Increased circulating IgA level, Leukopenia, Follicular hyperplasia, Erythema, Incre... OMIM:615934
Hennekam Syndrome
Arteriovenous malformation, Lymphangioma, Lymphopenia, Chylothorax, Splenomegaly, Pulmonary lymph... ORPHA:2136
Hemophagocytic Syndrome Associated With An Infection
Neutropenia, Hepatomegaly, Abnormal T cell subset distribution, Hemophagocytosis, Splenomegaly, E... ORPHA:158048
Orthostatic Hypotension 2
Anemia OMIM:618182
Perrault Syndrome 4
Hypoplasia of the uterus, Bicornuate uterus, Hypoplasia of the ovary OMIM:615300
Castleman Disease
Decreased mean corpuscular volume, Follicular hyperplasia, Mediastinal lymphadenopathy, Generaliz... ORPHA:160
Kcnq2-Related Epileptic Encephalopathy
Facial erythema, Pallor, Cerebral edema ORPHA:439218
Rare Circulatory System Disease
Arterial calcification, Pallor, Abnormal systemic arterial morphology, Arterial tortuosity, Vascu... ORPHA:98028
Donnai-Barrow Syndrome
Iris coloboma, Retinal detachment, Bicornuate uterus, Retinal dystrophy OMIM:222448
Mullerian Aplasia And Hyperandrogenism
Aplasia of the uterus, Aplasia of the vagina, Aplasia/Hypoplasia of the fallopian tube OMIM:158330
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Pulmonary artery stenosis, Splenomegaly, Pallor, Anemia, Lymphadenopathy ORPHA:667
Pseudo-Torch Syndrome 3
Cerebral hemorrhage, Leukocytosis, Lymphadenitis, Congenital thrombocytopenia, Anemia OMIM:618886
Gaucher Disease, Perinatal Lethal
Petechiae, Hepatomegaly, Hepatic failure, Splenomegaly, Hepatosplenomegaly, Nonimmune hydrops fet... OMIM:608013
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Stroke, Polycythemia, Pallor, Macular edema, Pancreatic cysts, Pancreat... ORPHA:892
Senior-Boichis Syndrome
Carotid artery dilatation, Cirrhosis, Hepatosplenomegaly, Reduced number of intrahepatic bile duc... ORPHA:84081
Hepatocellular Carcinoma
Abnormality of the hepatic vasculature, Hepatomegaly, Hemobilia, Anemia, Polycythemia, Venous ins... ORPHA:88673
Combined Oxidative Phosphorylation Deficiency 41
Anemia, Nonimmune hydrops fetalis OMIM:618838
Diamond-Blackfan Anemia 1
Congenital hypoplastic anemia, Pallor, Coarctation of aorta, Thrombocytosis, Neutropenia, Thrombo... OMIM:105650
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Anemia of inadequate production, Elliptocytosis OMIM:166910
Lumbar Syndrome
Bifid scrotum, Micropenis, Hypospadias, Bifid uterus, Ambiguous genitalia, Cryptorchidism, Hypopl... ORPHA:83628
Myopathic Ehlers-Danlos Syndrome
Pallor ORPHA:536516
Shwachman-Diamond Syndrome 1
Exocrine pancreatic insufficiency, Neutropenia, Hepatomegaly, Persistence of hemoglobin F, Myocar... OMIM:260400
Orotic Aciduria
Hypochromia, Folate-unresponsive megaloblastic anemia, Anisocytosis, Impaired T cell function, Po... OMIM:258900
Retinitis Pigmentosa 51
Pallor OMIM:613464
Non-Functioning Paraganglioma
Pallor, Cerebral hemorrhage ORPHA:94080
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Pulmonary lymphangiectasia, Palpebral edema, Lymphedema, Nonimmune hydrops fetalis OMIM:137940
Amoebiasis Due To Entamoeba Histolytica
Leukocytosis, Pleural empyema, Elevated hepatic transaminase, Pleural effusion, Anemia, Lung absc... ORPHA:67
Oslam Syndrome
Anemia OMIM:165660
Agammaglobulinemia, X-Linked
Decreased circulating IgA level, Decreased circulating IgG level, Complete or near-complete absen... OMIM:300755
Müllerian Aplasia And Hyperandrogenism
Abnormal vagina morphology, Hypoplasia of the uterus, Abnormality of the ovary ORPHA:247768
Pallor, Normochromic anemia ORPHA:95512
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Lymphopenia, Splenomegaly, Hepatosplenomegaly, Hypoplasia of the thymus, Monocytosi... OMIM:612541
Osteootohepatoenteric Syndrome
Microvesicular hepatic steatosis, Dehydration, Cholestasis, Hepatic fibrosis, Prolonged neonatal ... OMIM:619377
Kikuchi-Fujimoto Disease
Hepatomegaly, Lymphocytosis, Vasculitis in the skin, Splenomegaly, Cervical lymphadenopathy, Abno... ORPHA:50918
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Bicornuate uterus, Aplasia/Hypoplasia of the pancreas, Papillary cystadenoma of the epididymis, H... ORPHA:93111
Fructose-1,6-Bisphosphatase Deficiency
Pallor, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly ORPHA:348
Interstitial Lung And Liver Disease
Hepatomegaly, Hepatic failure, Cirrhosis, Elevated circulating aspartate aminotransferase concent... OMIM:615486
Dravet Syndrome
Pallor ORPHA:33069
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Abnormality of the hepatic vasculature, Abnormal retinal vascular morphology, Macular edema, Reti... ORPHA:247691
Seckel Syndrome 7
Hypoplasia of the uterus OMIM:614851
Pituitary Apoplexy
Pallor, Normochromic anemia ORPHA:95613
Renal Hypodysplasia/Aplasia 1
Vaginal atresia, Bicornuate uterus OMIM:191830
Kennerknecht syndrome
Agonadism, Hypoplasia of the uterus OMIM:600908
46,Xy Sex Reversal 4
Sex reversal, Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Agonadism, Gonadal dysgen... OMIM:154230
Renal And Mullerian Duct Hypoplasia
Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus OMIM:266810
Chédiak-Higashi Syndrome
Abnormal leukocyte morphology, Decreased liver function, Neutropenia, Vacuolated lymphocytes, Abn... ORPHA:167
Pallor, Normochromic anemia ORPHA:95513
Gaisböck Syndrome
Peripheral arterial stenosis, Stroke, Increased hematocrit, Elevated plasma cell count, Increased... ORPHA:90041
Dyskeratosis Congenita, Autosomal Dominant 1
Lymphopenia, Cirrhosis, Aplastic anemia, Bone marrow hypocellularity, Anemia, Thrombocytopenia OMIM:127550
Townes-Brocks Syndrome 2
Hypospadias, Bifid uterus, Rectovaginal fistula OMIM:617466
3-Methylglutaconic Aciduria, Type Viia
Anemia, Anisopoikilocytosis, Neutropenia OMIM:619835
Non-Functioning Pituitary Adenoma
Pallor, Anemia of inadequate production ORPHA:91349
Normosmic Congenital Hypogonadotropic Hypogonadism
Hypoplasia of the uterus, Hypoplasia of the ovary, Cryptorchidism, Micropenis, Hypogonadotropic h... ORPHA:432
Satoyoshi Syndrome
Hypoplasia of the uterus OMIM:600705
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Leukocytosis, Splenomegaly, Lymphadenitis, Cholestasis, Elevated hepatic transamina... OMIM:615895
Ehlers-Danlos Syndrome, Classic-Like
Ambiguous genitalia, female, Bicornuate uterus OMIM:606408
Osteopetrosis, Autosomal Recessive 7
Decreased circulating IgA level, Hepatomegaly, Decreased circulating IgG level, Splenomegaly, Dec... OMIM:612301
Sheehan Syndrome